KEGG   VARIANT: 6911v1
Entry
6911v1                      Variant                                
Name
TBX6 mutation
Type
Loss of function
Gene
TBX6  T-box transcription factor 6 [KO:K10180]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602427
Network
nt06511  NOTCH signaling
Disease
H00517  Spondylocostal dysostosis
Reference
PMID:25483003
  Authors
Wahi K, Bochter MS, Cole SE
  Title
The many roles of Notch signaling during vertebrate somitogenesis.
  Journal
Semin Cell Dev Biol 49:68-75 (2016)
DOI:10.1016/j.semcdb.2014.11.010
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